Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TXNRD1_chr12_104210779_104355307	104229562	C C	CATTTTAT others(13): Show CATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01943.hp1 others(16): Show HG01516.hp2 HG01517.hp1 HG01943.hp1 HG02165.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp1 HG03579.hp1 HG03704.hp1 NA19007.hp2 NA19030.hp2 NA19091.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0002c0009t0001	a0001c0001t0001g0086 a0001c0002t0001g0101 a0001c0002t0001g0102 others(16): Show a0001c0001t0001g0086 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0294 a0001c0002t0001g0299 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0003t0001g0097 a0001c0003t0001g0159 a0001c0003t0003g0100 a0001c0003t0003g0105 a0001c0003t0003g0106 a0001c0003t0003g0123 a0002c0009t0001g0295	19	190	0.1000	20	c.91+ others(37): Show c.91+13689_91+13708dupTATTTTATTTTATTTTATTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104229571	T T	TTATTTTA others(13): Show TTATTTTATTTTATTTTATTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp1 HG02280.hp1 others(3): Show HG01081.hp1 HG02258.hp1 HG02280.hp1 HG02647.hp1 HG02723.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0004 a0001c0006t0001 a0001c0004t0004 a0001c0006t0001	a0001c0004t0004g0094 a0001c0004t0004g0275 a0001c0004t0004g0277 others(3): Show a0001c0004t0004g0094 a0001c0004t0004g0275 a0001c0004t0004g0277 a0001c0004t0004g0278 a0001c0006t0001g0274 a0001c0006t0001g0276	6	300	0.0200	20	c.91+ others(37): Show c.91+13697_91+13698insGTATTTTATTTTATTTTATT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104252660	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0159 a0001c0003t0001g0159	1	265	0.0038	20	c.243 others(35): Show c.243+983_243+984insATATATATATATATATATAT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	206	0.0049	20	c.243 others(37): Show c.243+2967_243+2968insAAAAAAAAAAAAAAAATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267241	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01081.hp1 others(47): Show HG00642.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp2 HG02129.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03927.hp2 NA18747.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp2 NA19011.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0004 a0001c0004t0006 a0001c0006t0001 a0001c0007t0005 a0001c0011t0005	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0174 others(47): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0001g0273 a0001c0001t0003g0165 a0001c0001t0003g0301 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0287 a0001c0002t0001g0293 a0001c0002t0001g0300 a0001c0002t0002g0058 a0001c0002t0002g0079 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0003t0001g0088 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0151 a0001c0003t0001g0158 a0001c0003t0003g0105 a0001c0003t0003g0107 a0001c0003t0003g0117 a0001c0003t0003g0123 a0001c0004t0004g0275 a0001c0004t0004g0277 a0001c0004t0006g0091 a0001c0006t0001g0274 a0001c0007t0005g0281 a0001c0011t0005g0116	50	62	0.8065	20	c.304 others(37): Show c.304+9185_304+9204dupTTTCTTTCTTTCTTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267647	A A	ATCTTTCC others(13): Show ATCTTTCCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG01943.hp1 others(5): Show HG00099.hp1 HG01256.hp1 HG01943.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp2 HG03239.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 others(5): Show a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0190 a0001c0002t0001g0280	8	23	0.3478	20	c.304 others(37): Show c.304+9574_304+9575insCTTCTTTCTTTCTTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267647	A A	ATCTTTCT others(13): Show ATCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18978.hp1 HG01346.hp2 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0158 a0001c0003t0001g0140 a0001c0003t0001g0158	2	17	0.1176	20	c.304 others(37): Show c.304+9604_304+9623dupTTCTTTCTTTCTTTCTTTCT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104294233	G G	GGCGCCCC others(13): Show GGCGCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18942.hp1 NA18991.hp2 others(1): Show HG01074.hp1 NA18942.hp1 NA18991.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0243 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0207 a0001c0001t0001g0243 a0001c0001t0001g0258 a0001c0001t0001g0262	4	113	0.0354	20	c.414 others(37): Show c.414+5193_414+5194insGCGCCCCCCCCCCCCCCCCC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104345648	G G	GAGTAGTA others(13): Show GAGTAGTAATTTCAACTAATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0002c0009 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0005t0001 a0001c0006t0001 a0001c0007t0005 a0001c0010t0002 a0001c0011t0005 a0002c0009t0001 a0003c0008t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(266): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0003g0165 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0007g0228 a0001c0001t0008g0231 a0001c0001t0009g0038 a0001c0001t0010g0008 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0162 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0213 a0001c0002t0001g0240 a0001c0002t0001g0280 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0265 a0001c0003t0001g0088 a0001c0003t0001g0097 a0001c0003t0001g0159 a0001c0003t0003g0098 a0001c0003t0003g0100 a0001c0003t0003g0105 a0001c0003t0003g0106 a0001c0003t0003g0107 a0001c0003t0003g0110 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0117 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0004t0001g0092 a0001c0004t0003g0089 a0001c0004t0003g0279 a0001c0004t0004g0094 a0001c0004t0004g0275 a0001c0004t0004g0277 a0001c0004t0004g0278 a0001c0004t0006g0090 a0001c0004t0006g0091 a0001c0005t0001g0002 a0001c0005t0001g0099 a0001c0005t0001g0108 a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0118 a0001c0005t0001g0119 a0001c0005t0001g0120 a0001c0006t0001g0093 a0001c0006t0001g0095 a0001c0006t0001g0096 a0001c0006t0001g0274 a0001c0006t0001g0276 a0001c0007t0005g0281 a0001c0007t0005g0282 a0001c0010t0002g0021 a0001c0011t0005g0116 a0002c0009t0001g0295 a0003c0008t0003g0239	269	300	0.8967	20	c.188 others(39): Show c.1882-2704_1882-2703insGTAGTAATTTCAACTAATCA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(13): Show CACACACACACACTATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19000.hp2 NA18959.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0001g0004 a0001c0001t0001g0095	2	315	0.0063	20	c.190 others(35): Show c.190-776_190-775insTATATATAGTGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(13): Show CACACACACACTATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18965.hp1 NA18986.hp2 others(1): Show NA18960.hp1 NA18965.hp1 NA18986.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0302 a0001c0001t0001g0358 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0302 a0001c0001t0001g0358 a0001c0001t0006g0314	4	317	0.0126	20	c.190 others(35): Show c.190-776_190-775insTATATATATAGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(13): Show CACACACACTATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	314	0.0032	20	c.190 others(35): Show c.190-776_190-775insTATATATATATAGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245654	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	243	0.0041	20	c.190 others(35): Show c.190-812_190-811insAAAAAATATATATATATATA	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TYK2_chr19_10345533_10385572	10372458	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0064 a0003c0004t0002g0064	1	302	0.0033	20	c.194 others(37): Show c.194-4060_194-4041dupTATATATATATATATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10377536	A A	ATGGATGG others(13): Show ATGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01070.hp1 others(11): Show HG00099.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01175.hp1 HG02071.hp2 HG02083.hp2 HG02602.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03834.hp2 NA19085.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0003 a0003c0004 a0003c0014 others(1): Show a0001c0003 a0003c0004 a0003c0014 a0009c0013	a0001c0003t0001 a0003c0004t0001 a0003c0004t0002 others(2): Show a0001c0003t0001 a0003c0004t0001 a0003c0004t0002 a0003c0014t0002 a0009c0013t0002	a0001c0003t0001g0077 a0003c0004t0001g0090 a0003c0004t0002g0055 others(11): Show a0001c0003t0001g0077 a0003c0004t0001g0090 a0003c0004t0002g0055 a0003c0004t0002g0056 a0003c0004t0002g0058 a0003c0004t0002g0059 a0003c0004t0002g0060 a0003c0004t0002g0061 a0003c0004t0002g0062 a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0065 a0003c0014t0002g0067 a0009c0013t0002g0066	14	373	0.0375	20	c.193 others(35): Show c.193+658_193+677dupCCCACCCACCCATCCATCCA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYRO3_chr15_41554212_41588589	41560393	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA20129.hp1 NA18944.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0037 a0001c0002t0009g0037 a0001c0002t0002g0037 a0001c0002t0009g0037	2	149	0.0134	20	c.125 others(35): Show c.125-717_125-698dupTGTGTGTGTGTGTGTGTGTG	TYRO3	ENSG00000092445.12	transcript	ENST00000263798.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
TYR_chr11_89172875_89300759	89177150	G G	GGAGAGGG others(13): Show GGAGAGGGAGAGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02965.hp1 HG02976.hp1 others(3): Show HG02647.hp2 HG02965.hp1 HG02976.hp1 HG04184.hp1 HG04199.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0102	6	240	0.0250	20	c.-80 others(29): Show c.-804_-803insGAGAGGGAGAGAGAGGGAGA	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding		724		chr11	TogoVar
TYR_chr11_89172875_89300759	89202622	T T	TACACACA others(13): Show TACACACACACACAAACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp2 others(50): Show HG00140.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01167.hp1 HG01192.hp1 HG01257.hp1 HG01515.hp2 HG01884.hp1 HG02004.hp1 HG02015.hp1 HG02083.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG03098.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18960.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18989.hp2 NA18992.hp2 NA19000.hp2 NA19005.hp2 NA19010.hp2 NA19066.hp1 NA19076.hp1 NA19079.hp1 NA19084.hp2 NA19089.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(48): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024	53	124	0.4274	20	c.103 others(41): Show c.1036+11217_1036+11218insAACACACACACACACACACA	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYR_chr11_89172875_89300759	89202622	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01081.hp1 others(34): Show HG00423.hp2 HG00609.hp2 HG01081.hp1 HG01099.hp1 HG01243.hp1 HG02040.hp2 HG02129.hp1 HG02257.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18956.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18985.hp1 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19006.hp2 NA19058.hp2 NA19063.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0097 others(34): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0279 a0001c0001t0001g0291	37	108	0.3426	20	c.103 others(41): Show c.1036+11213_1036+11232dupACACACACACACACACACAC	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYR_chr11_89172875_89300759	89202622	T T	TACATACA others(13): Show TACATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	72	0.0139	20	c.103 others(41): Show c.1036+11207_1036+11208insTACACACACACACACACACA	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYW1B_chr7_72569513_72833200	72602833	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0157 a0002c0003t0001g0157	1	24	0.0417	20	c.178 others(41): Show c.1785+13819_1785+13838dupGTGTGTGTGTGTGTGTGTGT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	13/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72627512	T T	TAACATAA others(13): Show TAACATAACATAACATAAATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19068.hp1 HG01981.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0244 a0003c0004t0001g0109 a0001c0002t0001g0244 a0003c0004t0001g0109	2	197	0.0102	20	c.161 others(39): Show c.1617+1374_1617+1375insTATTTATGTTATGTTATGTT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	12/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72672473	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19002.hp1 NA19065.hp2 others(3): Show HG01952.hp1 NA19002.hp1 NA19065.hp2 NA19086.hp2 NA19087.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0003c0004t0001 a0002c0003t0001 a0003c0004t0001	a0002c0003t0001g0095 a0003c0004t0001g0099 a0003c0004t0001g0100 others(3): Show a0002c0003t0001g0095 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0102 a0003c0004t0001g0104 a0003c0004t0001g0106	6	9	0.6667	20	c.150 others(41): Show c.1506+22194_1506+22213dupGTGTGTGTGTGTGTGTGTGT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72756201	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp2 HG02630.hp2 HG03130.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0074 a0004c0005t0001g0174 a0001c0001t0001g0074 a0004c0005t0001g0174	2	85	0.0235	20	c.965 others(39): Show c.965-11620_965-11601dupTAAAATAAAATAAAATAAAA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	7/13			chr7	TogoVar
TYW1_chr7_66991833_67244514	67112100	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02148.hp1 NA18943.hp2 HG02004.hp2 HG02148.hp1 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0321 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0321 a0001c0002t0003g0322 a0001c0002t0003g0323	3	90	0.0333	20	c.156 others(39): Show c.1563-5379_1563-5360dupAAAAAAAAAAAAAAAAAAAA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67149722	A A	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19086.hp2 NA19057.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0109 a0001c0001t0001g0066 a0001c0001t0001g0109	2	70	0.0286	20	c.169 others(41): Show c.1698+32138_1698+32157dupATCTATCTATCTATCTATCT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67180424	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01515.hp1 HG01517.hp2 HG00609.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0006g0262 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0006g0262	3	281	0.0107	20	c.169 others(39): Show c.1699-2702_1699-2701insTATATATATATATATATATT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15			chr7	TogoVar
TYW1_chr7_66991833_67244514	67180632	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18522.hp2 NA19030.hp1 others(2): Show HG01255.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19077.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0002c0004 a0010c0020 a0002c0003 a0002c0004 a0010c0020	a0002c0003t0002 a0002c0003t0004 a0002c0004t0002 others(1): Show a0002c0003t0002 a0002c0003t0004 a0002c0004t0002 a0010c0020t0008	a0002c0003t0002g0214 a0002c0003t0002g0220 a0002c0003t0004g0172 others(2): Show a0002c0003t0002g0214 a0002c0003t0002g0220 a0002c0003t0004g0172 a0002c0004t0002g0358 a0010c0020t0008g0213	5	276	0.0181	20	c.169 others(39): Show c.1699-2485_1699-2466dupATTTATTTATTTATTTATTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67204457	C C	CTCCTTCC others(13): Show CTCCTTCCTCCCTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02486.hp2 others(7): Show HG01891.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG02896.hp2 HG02965.hp2 HG03209.hp2 HG03453.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0002 a0002c0003t0002 a0002c0004t0002	a0002c0003t0002g0123 a0002c0003t0002g0230 a0002c0003t0002g0234 others(7): Show a0002c0003t0002g0123 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0004t0002g0289	10	362	0.0276	20	c.197 others(39): Show c.1977+9143_1977+9162dupCTTCCTCCCTCCCTTCCTTC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67210764	G G	GTCCGTCC others(13): Show GTCCGTCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0214 a0002c0003t0002g0214	1	256	0.0039	20	c.197 others(41): Show c.1977+15430_1977+15431insGTCCATCCATCCATCCATCC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67210919	A A	ACCATCCA others(13): Show ACCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0306 a0002c0004t0002g0306	1	232	0.0043	20	c.197 others(41): Show c.1977+15588_1977+15607dupCATCCATCCATCCATCCATC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67211150	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02738.hp2 HG03209.hp2 others(3): Show HG02717.hp2 HG02738.hp2 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0214 others(3): Show a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0214 a0002c0003t0002g0220 a0002c0003t0002g0235 a0002c0003t0002g0247	6	89	0.0674	20	c.197 others(41): Show c.1977+15835_1977+15854dupGTGTGTGTGTGTGTGTGTGT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67241316	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA19087.hp2 NA18946.hp2 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0291 a0002c0004t0004g0295 a0002c0004t0004g0291 a0002c0004t0004g0295	2	278	0.0072	20	c.27 others(31): Show c.2787_*2788insAAAAAAAAAAAAAAAAAAAA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding		1803		chr7	TogoVar
U2AF2_chr19_55650035_55679716	55665505	T T	TCCTAAGT others(13): Show TCCTAAGTGCCCTCCATGGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0298 a0001c0004t0003g0298	1	392	0.0026	20	c.742 others(37): Show c.742+1762_742+1781dupCCTAAGTGCCCTCCATGGAC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
U2SURP_chr3_142996570_143065725	143004573	A A	ACCCCCCC others(13): Show ACCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03195.hp2 NA18968.hp1 HG01358.hp2 HG03195.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0144	3	74	0.0405	20	c.45+ others(35): Show c.45+2912_45+2913insCCCCCCCCCCCCCCCCCCCC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0047 a0001c0003t0002g0047	1	245	0.0041	20	c.79- others(37): Show c.79-12392_79-12391insATATATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70735150	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	306	0.0033	20	c.78+ others(37): Show c.78+28179_78+28180insGAGAATTTTTTTTTTTTTTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70749698	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0256 a0005c0009t0004g0256	1	82	0.0122	20	c.78+ others(37): Show c.78+13612_78+13631dupTTTTTTTTTTTTTTTTTTTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UAP1_chr1_162556722_162606240	162577435	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0077 a0001c0006t0007g0077	1	236	0.0042	20	c.485 others(35): Show c.485+466_485+485dupTTTTTTTTTTTTTTTTTTTT	UAP1	ENSG00000117143.14	transcript	ENST00000367925.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBA2_chr19_34423381_34476251	34456100	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	157	0.0064	20	c.124 others(39): Show c.1245+1549_1245+1550insTTTTTTTTTTTTTTTTTTTT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18945.hp1 NA18971.hp2 HG00140.hp2 NA18945.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0231 a0001c0002t0002g0016 a0001c0002t0002g0231	3	92	0.0326	20	c.124 others(39): Show c.1246-1589_1246-1588insAAAATATATATATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03654.hp2 NA19240.hp2 HG03130.hp2 HG03654.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0223 a0001c0001t0001g0279 a0001c0002t0002g0234 a0001c0001t0001g0223 a0001c0001t0001g0279 a0001c0002t0002g0234	3	92	0.0326	20	c.124 others(39): Show c.1246-1589_1246-1588insAATATATATATATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99232397	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(15): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp1 HG02083.hp1 HG02451.hp2 HG02895.hp2 HG03579.hp2 NA18941.hp1 NA18957.hp1 NA18977.hp1 NA19001.hp2 NA19030.hp1 NA19057.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0080 others(15): Show a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0175 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0004g0296 a0001c0001t0004g0312 a0001c0001t0004g0319	18	328	0.0549	20	c.32- others(35): Show c.32-6029_32-6028insTATATATATATATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GAGATAGA others(13): Show GAGATAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00738.hp1 others(8): Show HG00280.hp2 HG00642.hp2 HG00738.hp1 HG01074.hp2 HG01123.hp2 HG01257.hp1 HG01361.hp1 HG01952.hp2 HG03491.hp2 HG03492.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0109 others(8): Show a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0124	11	211	0.0521	20	c.32- others(35): Show c.32-6027_32-6026insGATAGATATATATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02572.hp1 NA18946.hp2 others(3): Show HG02132.hp1 HG02572.hp1 NA18946.hp2 NA18964.hp2 NA18972.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0089 a0001c0001t0004g0283 a0001c0001t0004g0287 others(3): Show a0001c0001t0001g0089 a0001c0001t0004g0283 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0292 a0001c0001t0004g0312	6	21	0.2857	20	c.562 others(37): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99338039	C C	CTTTTTTC others(13): Show CTTTTTTCTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	244	0.0041	20	c.562 others(37): Show c.562-2275_562-2274insCTTTTTCTTTTTTTTTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99338039	C C	CTTTTTTC others(13): Show CTTTTTTCTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	244	0.0041	20	c.562 others(37): Show c.562-2275_562-2274insCTTTTTTCTTTTTTTTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34182681	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp1 HG02135.hp2 others(2): Show HG00673.hp2 HG02015.hp1 HG02135.hp2 NA18612.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0115 a0002c0002t0001g0112 a0002c0002t0001g0113 others(2): Show a0001c0001t0001g0115 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116	5	132	0.0379	20	c.-8+ others(35): Show c.-8+3444_-8+3445insTTCTTTCTCTCTCTCTCTCT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34182681	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18981.hp1 NA18612.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0246 a0001c0001t0002g0256	2	129	0.0155	20	c.-8+ others(35): Show c.-8+3444_-8+3445insTTCTTTCTTTCTCTCTCTCT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTGTGTG others(13): Show CCTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG02155.hp1 others(6): Show HG00642.hp1 HG01243.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 NA19002.hp1 NA19077.hp2 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0078 others(6): Show a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0260	9	28	0.3214	20	c.-7- others(37): Show c.-7-18284_-7-18283insCTGTGTGTGTGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6			chr9	TogoVar

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